Canonical Allele Identifier: CA2579706218
Gene: HPRT1 HGNC NCBI

Linked Data

gnomAD v4: X-134486479-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134486483del , CM000685.2:g.134486483del GRCh38
NC_000023.10:g.133620513del , CM000685.1:g.133620513del GRCh37
NC_000023.9:g.133448179del NCBI36
NG_012329.1:g.31339del
NG_012329.2:g.31339del

Transcript Alleles

HGVS Amino-acid change
ENST00000298556.8:c.337del MANE Select ENSP00000298556.7:p.Asp113ThrfsTer2
ENST00000298556.7:c.337del ENSP00000298556.7:p.Asp113ThrfsTer2
ENST00000462974.5:n.495del
ENST00000475720.1:n.295del
NM_000194.2:c.337del NP_000185.1:p.Asp113ThrfsTer2
XM_011531328.1:c.355del XP_011529630.1:p.Asp119ThrfsTer2
NM_000194.3:c.337del MANE Select NP_000185.1:p.Asp113ThrfsTer2
Search 100 bp 5'
Search 100 bp 3'